Variant report

Variant	rs13012099
Chromosome Location	chr2:47010742-47010743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1058157	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11676737	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs12474201	0.95[CEU][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs12999586	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs13025984	0.91[CEU][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs13031872	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17774133	1.00[YRI][hapmap]
rs17822019	0.91[CEU][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs17822294	0.83[EUR][1000 genomes]
rs2346878	0.91[CEU][hapmap]
rs2346882	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2346883	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34401107	0.83[EUR][1000 genomes]
rs34606703	0.88[EUR][1000 genomes]
rs34767235	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35158352	0.82[EUR][1000 genomes]
rs35809007	0.82[EUR][1000 genomes]
rs35943760	0.80[AMR][1000 genomes]
rs36071056	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3829835	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs4130731	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4356702	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4952842	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs4952843	1.00[JPT][hapmap];0.87[MEX][hapmap]
rs4952847	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4953419	1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4953423	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4953434	1.00[YRI][hapmap]
rs55689263	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56288593	0.87[EUR][1000 genomes]
rs62134772	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62134773	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62134799	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7562173	1.00[JPT][hapmap];0.87[MEX][hapmap]
rs7584870	1.00[JPT][hapmap];0.80[MEX][hapmap]
rs7593289	1.00[YRI][hapmap]
rs7594523	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs897530	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47005400-47012400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:47008000-47011800	Weak transcription	A549	lung
3	chr2:47008200-47021000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:47008400-47010800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:47009000-47011800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:47009600-47010800	Weak transcription	Ovary	ovary
7	chr2:47009800-47011200	Weak transcription	Right Atrium	heart
8	chr2:47009800-47025200	Weak transcription	Right Ventricle	heart
9	chr2:47010000-47011400	Weak transcription	Left Ventricle	heart
10	chr2:47010000-47015000	Weak transcription	Psoas Muscle	Psoas

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